Personal genomics is an area of genomics focusing specifically on the sequencing and analysis of one person’s genome, and then giving them their genomic information. The Human Genome Project sequenced DNA pooled from a range of individuals, to create an average or ‘reference’ genome. However, every genome is unique, and, with the development of DNA sequencing technologies, it is now becoming practical and affordable for individuals to choose to get their genomes sequenced. This is called personal genomics.

Personal genomics can also be used to predict or confirm a genetic disease?. By looking at an individual’s genome it is possible to identify genetic variants? that may increase the likelihood of an individual having a genetic disease later on in life. For example, it can be used to tell a woman if she carries the BRCA1 breast cancer gene? and, if so, how much it increases the probability of her having breast cancer during her lifetime. This gives the individual the option of taking preventative measures, for example, if a woman finds her risk of breast cancer is high she may decide to have an operation to remove breast tissue (mastectomy).

Personal genomics can also be used to advise couples wanting to have children. For example, it is possible to be a ‘carrier’ of a genetic disorder such as cystic fibrosis, which means that an individual has one of the two genes for the disorder but does not exhibit symptoms. However, if their partner is also a carrier the chance of their child having the full disorder is dramatically increased.

Personal Genome Project

Announced in 2005, the Personal Genome Project is a large, long-term study looking to sequence and analyse the genomes of over 100,000 people across the world. In contrast to other studies of a similar size, the Personal Genome Project publishes all of its data online for all to see. With this approach they hope to dramatically speed up research into personal genomics and go some way to fulfilling the curiosity many of us have about our genomes.